Phenotypes Associated with This Genotype

Genotype
MGI:3795387

• Allelic Composition: Mcoln1^tm1Sasl/Mcoln1^tm1Sasl
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:135368 )

• average age of death is at 8 months of age

behavior/neurological

lethargy ( J:135368 )

• at 6 months of age

limb grasping ( J:135368 )

• nearly all mice exhibit clasping at 6 to 9 months of age unlike wild-type mice

weakness ( J:135368 )

• at 3 months of age mice had lost strength compared to homozygotes at 2 months of age or wild-type mice at 3 months of age

hunched posture ( J:135368 )

• at 6 to 9 months of age

abnormal gait ( J:135368 )

• at 6.5 months of age

short stride length ( J:135368 )

• at 6 to 9 months of age

hindlimb paralysis ( J:135368 )

• mice exhibit progressive hindlimb paralysis beginning at 6.5 months of age

nervous system

abnormal nervous system morphology ( J:135368 )

• at 8 months, mice exhibit neurons (Purkinje, astrocyte, microglial, and pyramidal cells) with large numbers of inclusions mostly confined to the basilar cytoplasm

decreased brain size ( J:135368 )

• at 7 to 9 months of age

abnormal optic nerve morphology ( J:135368 )

• mice exhibit optic nerve pallor

vision/eye

abnormal optic nerve morphology ( J:135368 )

• mice exhibit optic nerve pallor

thin retina inner nuclear layer ( J:135368 )

thin retina inner plexiform layer ( J:135368 )

abnormal retina outer nuclear layer morphology ( J:135368 )

• dystrophic

retina degeneration ( J:135368 )

digestive/alimentary system

abnormal stomach mucosa morphology ( J:135368 )

• mice exhibit extremely large vesicles in the gastric mucosa with only minor reductions in the number of granular pit cells and zymogenic cells

cardiovascular system

dilated cardiomyopathy ( J:135368 )

• subtle defect at 6 to 9 months of age

adipose tissue

absent subcutaneous adipose tissue ( J:135368 )

• at 6 to 9 months of age

growth/size/body

decreased body weight ( J:135368 )

• at 6 to 9 months of age

distended abdomen ( J:135368 )

• at 6 to 9 months of age

muscle

dilated cardiomyopathy ( J:135368 )

• subtle defect at 6 to 9 months of age

decreased skeletal muscle mass ( J:135368 )

• at 6 to 9 months of age

renal/urinary system

distended urinary bladder ( J:135368 )

• at 7 to 9 months of age

homeostasis/metabolism

increased circulating gastrin level ( J:135368 )

immune system

abnormal macrophage physiology ( J:189070 )

• dramatic reduction in current amplitudes of TRPML-like currents in isolated vacuoles

integument

absent subcutaneous adipose tissue ( J:135368 )

• at 6 to 9 months of age

hematopoietic system

abnormal macrophage physiology ( J:189070 )

• dramatic reduction in current amplitudes of TRPML-like currents in isolated vacuoles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mucolipidosis type IV		DOID:0080490	OMIM:252650	J:135368